TY - JOUR
T1 - Schinzel-Giedion syndrome
T2 - A further cause of early myoclonic encephalopathy and vacuolating myelinopathy
AU - Watanabe, Shuei
AU - Murayama, Akitoshi
AU - Haginoya, Kazuhiro
AU - Tanaka, Soichiro
AU - Togashi, Noriko
AU - Abukawa, Daiki
AU - Sato, Atsushi
AU - Imaizumi, Masue
AU - Yoshikawa, Hideto
AU - Takayama, Rumiko
AU - Wakusawa, Keisuke
AU - Kobayashi, Satoru
AU - Sato, Ikuko
AU - Onuma, Akira
PY - 2012/2/1
Y1 - 2012/2/1
N2 - Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
AB - Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
UR - http://www.scopus.com/inward/record.url?scp=84855609857&partnerID=8YFLogxK
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U2 - 10.1016/j.braindev.2011.03.010
DO - 10.1016/j.braindev.2011.03.010
M3 - Article
C2 - 21507589
AN - SCOPUS:84855609857
VL - 34
SP - 151
EP - 155
JO - Brain and Development
JF - Brain and Development
SN - 0387-7604
IS - 2
ER -